Aliases for SAE1 Gene
External Ids for SAE1 Gene
Previous GeneCards Identifiers for SAE1 Gene
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
GeneCards Summary for SAE1 Gene
SAE1 (SUMO1 Activating Enzyme Subunit 1) is a Protein Coding gene. Diseases associated with SAE1 include Ogden Syndrome and Adult Dermatomyositis. Among its related pathways are SUMOylation and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and enzyme activator activity. An important paralog of this gene is NAE1.
UniProtKB/Swiss-Prot for SAE1 Gene
The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2.